Varaico: Literature-Extracted Genetic Variants

TGFBR2

1,068 papers

RefSeq Summary

The protein encoded by this gene is a transmembrane protein that has a protein kinase domain, forms a heterodimeric complex with TGF-beta receptor type-1, and binds TGF-beta. This receptor/ligand comp...

Pfam Domains

ecTbetaR2aa 14–124UCSCTransforming growth factor beta receptor 2 ectodomain

PK_Tyr_Ser-Thraa 209–503UCSCProtein tyrosine and serine/threonine kinase

Gene Aliases

HGNC Name

transforming growth factor beta receptor 2

HGNC Previous Symbol

MFS2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_003242.6

p.D446V

c.1337A>T

Surrounding Variants

1 paper

NM_003242.6

p.D446G

c.1337A>G

35 papers

NM_003242.6

p.D446N

c.1336G>A

NM_001024847.3

p.D471N

c.1411G>A

7 papers

NM_003242.6

p.D446H

c.1336G>C

1 paper

NM_003242.6

p.D446Y

c.1336G>T

1 paper

NM_003242.6

p.D446E

c.1338T>A

1 paper

NM_003242.6

p.D446E

c.1338T>G

1 paper

NM_003242.6

p.V447I

c.1339G>A

1 paper

NM_003242.6

p.V447D

c.1340T>A

4 papers

NM_003242.6

p.V447A

c.1340T>C

1 paper

NM_003242.6

p.T445fs

c.1333_1334fs

1 paper

NM_003242.6

p.V447V

c.1341C>T

1 paper

NM_003242.6

p.Q444H

c.1332G>T